Ravikumar Balasubramanian Selected Research

Kallmann Syndrome (Kallmann's Syndrome)

1/2022	Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
1/2021	Kallmann syndrome and idiopathic hypogonadotropic hypogonadism: The role of semaphorin signaling on GnRH neurons.
11/2020	TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
1/2020	A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
12/2017	Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
3/2015	Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
12/2014	Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
2/2013	A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
1/2012	Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.
4/2011	The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

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Ravikumar Balasubramanian Research Topics

Disease

11	Kallmann Syndrome (Kallmann's Syndrome) 01/2022 - 01/2010
5	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2020 - 01/2010
4	Anosmia 01/2022 - 01/2010
3	Idiopathic Hypogonadotropic Hypogonadism 01/2021 - 01/2010
2	Infertility (Sterility) 12/2017 - 10/2012
2	CHARGE Syndrome 12/2017 - 12/2014
2	congenital fibrosis of the extraocular muscles 03/2015 - 02/2013
1	Hyperprolactinemia 01/2022
1	Cryptorchidism (Undescended Testes) 01/2022
1	Obesity 01/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2021
1	Craniosynostoses (Craniosynostosis) 11/2020
1	Congenital anosmia 01/2020
1	Weight Gain 01/2019
1	Hypothyroidism 12/2017
1	Strabismus (Squint) 02/2013

Drug/Important Bio-Agent (IBA)

10	Gonadotropin-Releasing Hormone (GnRH)FDA Link 01/2022 - 01/2010
4	Immunoglobulin D (IgD)IBA 01/2022 - 12/2014
2	AndrogensIBA 01/2022 - 09/2014
2	Proteins (Proteins, Gene)FDA Link 01/2020 - 02/2013
2	TubulinIBA 03/2015 - 02/2013
1	NucleotidesIBA 01/2022
1	Luteinizing Hormone (Lutropin)FDA LinkGeneric 01/2022
1	KisspeptinsIBA 01/2022
1	CeramidesIBA 01/2021
1	Semaphorins (Semaphorin)IBA 01/2021
1	Long Noncoding RNAIBA 01/2020
1	Testosterone (Sustanon)FDA Link 01/2019
1	Gonadal Steroid Hormones (Sex Hormones)IBA 12/2017
1	Hormones (Hormone)IBA 12/2017
1	GonadotropinsIBA 12/2017
1	Growth Hormone (Somatotropin)IBA 12/2017
1	Carrier Proteins (Binding Protein)IBA 12/2014
1	DNA HelicasesIBA 12/2014
1	KinesinsIBA 02/2013
1	DNA (Deoxyribonucleic Acid)IBA 02/2013

Therapy/Procedure

1	Genomic Medicine 01/2022